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Hereditary diffuse leukoencephalopathy with spheroids(GPSC; HDLS; ALSP)

MedGen UID:
777989
Concept ID:
C3711381
Disease or Syndrome
Synonyms: Adult-Onset Leukodystrophy with Neuroaxonal Spheroids; Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids; Dementia, Familial, Neumann Type; Gliosis, Familial Progressive Subcortical; Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids; Hereditary Diffuse Leukoencephalopathy with Spheroids; Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant; Leukoencephalopathy, Diffuse Hereditary, With Spheroids; Neuroaxonal Leukodystrophy; Subcortical Gliosis of Neumann
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary diffuse leukoencephalopathy with axonal spheroids (702427005); Adult-onset leukodystrophy with neuroaxonal spheroids (702427005); Hereditary diffuse leukoencephalopathy with spheroids (702427005); HDLS - hereditary diffuse leukoencephalopathy with spheroids (702427005); Neuroaxonal leukodystrophy (702427005)
 
OMIM®: 164770; 221820
Orphanet: ORPHA313808

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary diffuse leukoencephalopathy with spheroids

Recent clinical studies

Etiology

Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H
JAMA Neurol 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229. PMID: 27749956
Granberg T, Hashim F, Andersen O, Sundal C, Karrenbauer VD
Eur J Neurol 2016 Apr;23(4):817-22. Epub 2016 Jan 12 doi: 10.1111/ene.12948. PMID: 26756564
Kinoshita M, Kondo Y, Yoshida K, Fukushima K, Hoshi K, Ishizawa K, Araki N, Yazawa I, Washimi Y, Saitoh B, Kira J, Ikeda S
Intern Med 2014;53(1):21-7. PMID: 24390523
Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa M, Isami A, Okazaki K, Yokoo H, Itoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A, Ikeuchi T
Neurology 2014 Jan 14;82(2):139-48. Epub 2013 Dec 13 doi: 10.1212/WNL.0000000000000046. PMID: 24336230Free PMC Article
Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L
Neurology 2013 Dec 3;81(23):2039-44. Epub 2013 Nov 6 doi: 10.1212/01.wnl.0000436945.01023.ac. PMID: 24198292

Diagnosis

Robinson JL, Suh E, Wood EM, Lee EB, Coslett HB, Raible K, Lee VM, Trojanowski JQ, Van Deerlin VM
Acta Neuropathol Commun 2015 Jul 4;3:42. doi: 10.1186/s40478-015-0219-x. PMID: 26141825Free PMC Article
Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O
Eur J Neurol 2015 Feb;22(2):328-33. Epub 2014 Oct 13 doi: 10.1111/ene.12572. PMID: 25311247Free PMC Article
Kitani-Morii F, Kasai T, Tomonaga K, Saito K, Mizuta I, Yoshioka A, Nakagawa M, Mizuno T
Intern Med 2014;53(12):1377-80. Epub 2014 Jun 15 PMID: 24930661
Terasawa Y, Osaki Y, Kawarai T, Sugimoto T, Orlacchio A, Abe T, Izumi Y, Kaji R
J Neurol Sci 2013 Dec 15;335(1-2):213-5. Epub 2013 Aug 30 doi: 10.1016/j.jns.2013.08.027. PMID: 24094860
Kondo Y, Kinoshita M, Fukushima K, Yoshida K, Ikeda S
Intern Med 2013;52(4):503-6. Epub 2013 Feb 15 PMID: 23411710

Therapy

Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK
Parkinsonism Relat Disord 2013 Oct;19(10):869-77. Epub 2013 Jun 17 doi: 10.1016/j.parkreldis.2013.05.013. PMID: 23787135Free PMC Article

Prognosis

Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H
JAMA Neurol 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229. PMID: 27749956
Shu Y, Long L, Liao S, Yang J, Li J, Qiu W, Yang Y, Bao J, Wu A, Hu X, Lu Z
BMC Neurol 2016 Sep 13;16:171. doi: 10.1186/s12883-016-0694-0. PMID: 27619214Free PMC Article
Kawakami I, Iseki E, Kasanuki K, Minegishi M, Sato K, Hino H, Shibuya K, Fujisawa K, Higashi S, Akiyama H, Furuta A, Takanashi M, Li Y, Hattori N, Mitsuyama Y, Arai H
J Neurol Sci 2016 Aug 15;367:349-55. Epub 2016 Jun 7 doi: 10.1016/j.jns.2016.06.013. PMID: 27423618
Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O
Eur J Neurol 2015 Feb;22(2):328-33. Epub 2014 Oct 13 doi: 10.1111/ene.12572. PMID: 25311247Free PMC Article
Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK
Parkinsonism Relat Disord 2013 Oct;19(10):869-77. Epub 2013 Jun 17 doi: 10.1016/j.parkreldis.2013.05.013. PMID: 23787135Free PMC Article

Clinical prediction guides

Kawakami I, Iseki E, Kasanuki K, Minegishi M, Sato K, Hino H, Shibuya K, Fujisawa K, Higashi S, Akiyama H, Furuta A, Takanashi M, Li Y, Hattori N, Mitsuyama Y, Arai H
J Neurol Sci 2016 Aug 15;367:349-55. Epub 2016 Jun 7 doi: 10.1016/j.jns.2016.06.013. PMID: 27423618
Granberg T, Hashim F, Andersen O, Sundal C, Karrenbauer VD
Eur J Neurol 2016 Apr;23(4):817-22. Epub 2016 Jan 12 doi: 10.1111/ene.12948. PMID: 26756564
Riku Y, Ando T, Goto Y, Mano K, Iwasaki Y, Sobue G, Yoshida M
J Neuropathol Exp Neurol 2014 Dec;73(12):1183-90. doi: 10.1097/NEN.0000000000000139. PMID: 25383640
Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa M, Isami A, Okazaki K, Yokoo H, Itoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A, Ikeuchi T
Neurology 2014 Jan 14;82(2):139-48. Epub 2013 Dec 13 doi: 10.1212/WNL.0000000000000046. PMID: 24336230Free PMC Article
Terasawa Y, Osaki Y, Kawarai T, Sugimoto T, Orlacchio A, Abe T, Izumi Y, Kaji R
J Neurol Sci 2013 Dec 15;335(1-2):213-5. Epub 2013 Aug 30 doi: 10.1016/j.jns.2013.08.027. PMID: 24094860

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